Disease: Depressed nasal bridge
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808